R32I (p.Arg32Ile) variant of LEPR (Leptin receptor)
R32I (p.Arg32Ile) in LEPR (Leptin receptor) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
R32I (p.Arg32Ile) variant details
- p.Arg32Ile
- rs1360127522
- NCI-TCGA Cosmic COSV6074
- cosmic curated COSV60746
- gnomAD rs1360127522
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.11
- CADD 21.50
- PolyPhen-2 0.35
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available